Fertility Treatment is the Likely Cause of the Identical Triplets

Posted on March 5, 2008 by Steven F. Palter, MD

Many are reporting today that a woman on Long Island gave birth to rare identical triplets. She actually gave birth at one of my main hospitals and I know her Ob. The story goes on to say she had IVF but only one embryo was replaced. I was not her treating fertility doctor. However, this event raises and important fact. More and more fertility specialists are turning to a technique called blastocyst transfer. Here we let the embryo grow and additional 2 days in the dish in the lab. Instead of transferring it on day 3 we let it grow until day 5 (occasionally 6). By letting them grow more each embryo that survives has a greater chance of implanting. Therefore we can transfer less of them, reduce the risk of multiples (usually!) and keep pregnancy rates high. The risk is if the embryos are not very strong then none may survive.

Why this may be the cause: It has been know for some time that when we use this technique the rate of identical twins (ie a single embryo splits into two) is significantly great – up to 5% or so. Therefore it makes perfect sense that the rate of identical triplets could rise as well. Since a single embryo was transferred they say- this is usually done in blastocyst cases.

Google Finished With Cataloging the Internet Moving on to Your DNA

Posted on March 4, 2008 by Steven F. Palter, MD

It was just reported today that: “A Harvard University scientist backed by Google Inc. and OrbiMed Advisors LLC plans to unlock the secrets of common diseases by decoding the DNA of 100,000 people in the world’s biggest gene sequencing project.”

What nothing better to spend $1Billion on? Why are they doing this you ask….

Harvard’s George Church plans to spend $1 billion to tie DNA information to each person’s health history, creating a database for finding new medicines. The U.S., U.K., China and Sweden this year began working together to decipher the genetic makeup of 1,000 people at a cost of $50 million.

Google, owner of the most popular Internet search engine, is looking for ways to give people greater control over their medical data. Along with the unspecified donation to Church, the Mountain View, California-based company said last week that it would work with the Cleveland Clinic to better organize health records, and last year gave $3.9 million to 23andme Inc., a seller of genomic data to individuals.

Church’s plan “would be the largest human genome sequencing project in the world,” Stephen Elledge, a geneticist at Harvard Medical School in Boston, said in a telephone interview today. “The genetic variations are what make people different, and we need to understand the connections to human disease. They’ll get a tremendous amount of information from this,” said Elledge, who isn’t involved in the project….“If we can expand the project, we’ll probably go for a million genomes,” Church said.

Personalized genetics and genomics are hot topics – Read more about the concepts here. With these two you either look to an individual’s genetics to see how it will impact a disease or a treatment (a single gene) or with genomics “This is the dream of everyone gets a genome sequenced at birth, we assess risk, create prevention plans, identify idosyncratic drug reactions prior to medication therapy”.

The medical and financial impact for the company owning this data in unimaginable. The source of individual variability of response to drugs and individual susceptability to disease could be greatly unlocked – as well as mined for new therapeutics. Google of course is getting into all medical databasing starting with your health record and I predict images of your diseases next.

The Bigger Story Behind the 3 Parent Embryo- Human Embryo Genetic Experimentation

Posted on March 3, 2008 by Steven F. Palter, MD

Countless sources are reporting on the “three parent embryo” created as a potential treatment for infertility. What has not been reported is that ther is an almost 10 year history of unreagulated human experimentation in this arena which led to a rare federal ban on specific fertility treatments. Is this hope, hype or dangerous human experimentation? Read on to see!

Background- what are mitochondria? Mitochondria are tiny primite organisms that millions of yers ago became incorporated into human cells. They exisit in every cell but have their own unique genetic material. They function as the engines of the cell providing energy for metabolism. I wrote an review of how they got there and what they do that you can read here. In short mitochondria have their own DNA (similar to that of bacteria) and reproduce independently of the cell in which it is found. We now have a symbiotic relationship with them.

First – the details receontly reported by the BBC. Diseases of the function of mitochondria exist. “About one in every 6,500 people is affected by such conditions, which include fatal liver failure, stroke-like episodes, blindness, muscular dystrophy, diabetes and deafness.” Details of their human experiment: Scientists in the UK experimented on 10 embryos left over after IVF fertility treatments. They microsurgically removed the nucleus, containing the embryo’s DNA and implanted it into a donor egg whose DNA had also been removed. The donor egg while missing its DNA still contained its mitochondrial DNA. They watched these embryos grow in the petri dish for 6 days.

Therefore the resulting embryo will have the DNA of the donated nucleus but the mitochondrial DNA of the host cell- curing and potentially eradicating – the mitochondrial illness.

This is not the first time this has been done. The fertility treatment history of human experimentation on this: While I was teaching at Yale Medical one of my partners and mentors in the fertility department (Dr David Keefe) was actively pursuing research on mitochondrial dysfunction as a cause of human infertility. At that time a few fertility doctors in the US theorized that one cause of human reproductive aging was accumulated damage to the mitochondria in the egg. They thought the genes of the egg could be healthy but the rest of the egg that supports its become faulty. They experimented with a technique called cytoplasmic transfer. Using a microscopic needle tiny drops of fluid were sucked out of a donor’s egg and injected into that of an older infertile woman hoping to breath new energy and life into it. Unfortunately most research groups found it did not seem to offer any benefit.

Reasons why it likely did not work:

using minute drops of fluid from a donor egg into a recipient is just not enough to correct the metabolic problem or defect
my collegues at Yale found that the mitochondria in the egg is often tightly joined to the nucleus so the cytoplasmic transfer did not move enough of them
a huge proportion of age related egg defects are related to nuclear not mitochondrial DNA defects.

The federal government banned this treatment in 2001. Some feared that chromosomal abnormalities and birth defects could result if there were three people’s DNA in one embryo. Federal officials decided that any method involving the transfer of genetic materials without the fusion of egg and sperm requires the oversight and involvement of the Food and Drug Administration. The US legislation leading to the FDA taking jurisdiction over human eggs sperm and embryos is a whole other topic to be covered in later posts. A brief overview of this from Rodger Gosden (who I know and respect as a leading reproductive biologist) is posted here from 1999 when this treatment was at its heyday with references justifying its use from mouse research.

The next brouha using the technique in humans in 2003: Related research on nuclear transfer was again presented at the annual ASRM meeting in San Antonio in 2003. I was in the audience for the talk and remember it well. One of the researchers was an American out of NYU Dr Jaime Grifo who also used to be in my ex-department at Yale. He is also a repected researcher who I know well. Unable to perform the research in the US- the experiment was performed in China. as reported here and here

Researchers at Sun Yat-sen University in Guangzhou implanted three embryos in the womb of a 30-year-old infertile woman… A triplet pregnancy resulted, they announced at the annual meeting of the American Society for Reproduction Medicine in San Antonio, Texas this week. One of the foetuses was “reduced” to ensure the viability of the pregnancy, but the other two died anyway at 24 and 29 weeks.

With this technique, called nuclear transfer, the doctors fertilised an egg from their patient and an egg from a donor. Two embryos resulted. The nucleus of both women’s embryos was extracted, and the patient’s genetic material was inserted into the empty “eggshell” of the other embryo which, however, contained mitochondria with the other woman’s DNA. The procedure gives the infertile woman’s embryo the healthy mitochondria it needs to develop — but it also results in a child with genetic material from one father and two mothers.

Dr Grifo has maintained that he was an advisor and did not partake in the actual experiment. NYU issued a statement that if the research was performed in China their IRB did not have oversight (different than my department where all work I did anywhere fell under the IRB as a faculty member). I have never asked him his take on this but do respect him and strongly do not believe he is someone who would knowingly break the law or do what he felt was wrong.

Nonetheless- the ASRM responded with a moratorium on any future presentations on cloning (whether this was cloning is a whole other debate- many feel not).

The technique is still undergoing related research: I chair the video committe of the American Societry for Reproductive Medicine (ASRM) the largest international fertility research society. Just this past year we accepted a video presentation on how to technically perform the procedure from a research team in Japan. The paper- Embryonic Development Following the Nuclear Transfer of In Vitro Matured Metaphase-II Oocytes into Enucleated Freshly Ovulated Metaphase-II Oocytes by Tanaka and collegues investigated the possibility of repairing either mitochondrial diseases or female infertility due to ooplasmic deficiency and abnormalities. They demonstrated embryonic development following the nuclear transfer of in vitro matured metaphase-II oocytes into enucleated freshly ovulated metaphase-II oocytes and concluded it could be applied to the treatment of mitochondrial diseases or female infertility due to ooplasmic deficiency and abnormalities.

More is certainly to come.

How Smartdust, Souveillance, Web 3.0, and Personalized Genetics Will Transform the Future of Medical Diagnostics

Posted on February 25, 2008 by Steven F. Palter, MD

There has been a flurry of debate in the military, industrial, and privacy sectors on “smartdust” and the concept of “souveillance” – but no one has yet realized this technology is poised to springboard into medicine and transform medical diagnostics. Here I wanted to give you an overview of what this idea is and why you should keep your eye on it.

First the general concept background:

“Smartdust” refers to micro devices (called motes) which are detection microchips each potentially the size of a speck of dust. These grains of sand however can automatically self-network. So far people have conceived of these low-power distributed sensing networks as having functions for climate control systems, entertainment devices and especially for big brother type surveillance systems.

Wikipedia wrote “the smartdust concept was introduced by Kristofer S. J. Pister (University of California) in 2001 , though similar ideas existed in science fiction before then. A recent review discusses various techniques to take smartdust in sensor networks beyond millimeter dimensions to the micrometre level. A typical application scenario is scattering a hundred of these sensors around a building or around a hospital to monitor temperature or humidity, track patient movements, or inform of disasters, such as earthquakes. In the military, they can perform as a remote sensor chip to track enemy movements, detect poisonous gas or radioactivity. The ease and low cost of such applications have raised privacy concerns.” Beyond web 2.0 vast networks of these real time sensors are once possible technology leap of the yet inknown web 3.0.

General concept – What is Souveillance?: is a term from Steve Mann that refers to “bottom up” surveillance using smart dust as opposed to “top down” big brother networks looking at us little people. Here instead activities are recorded from the “perspective of a participant in the activity, typically by way of small portable or wearable recording devices that often stream continuous live video to the Internet.” Remember the impact of the Rodney King video and of all the user generated video content on the web. Now fast forward to a world where a large segment or even a majority of the populice had real time streaming video devices on all the time (no we are not going to discuss the porn angle on this). This has also been called “inverse surveillance”.

Privacy advocates have been debating the merits or horrors of this type of sensor technology. I serve on the Scientific Advisory Board of the Lifeboat Foundation which is dedicated to protecting us from future technological threats through advocacy research and education. They have been having a heated debate on the “paradox of smart dust: we may not live without the greater security provided by smart dust, but many think they could not live with smart dust impinging on our privacy.’

Medical Implications: I have a vision that once this type of low power networked microsensor technology exists it will logically lead to medical sensor technology. Potential uses I see include:

mass screening for infectious disease or bioterror agents. Subjects walking into screening areas could be checked for signature molecules associated with infectious agents. Just as we have metal detectors and now have molecular signature detectors (the litle wipe test for explosives at the airport) we will have such biological screening techology.
The next step will be similar screening for disease states. Metabolomics is one such technology. Metabolomics is the study of the small-molecule metabolite byproducts left behind from cellular processes. In simple terms it’s like examining poop. The concept is that by measuring the collection of all the byproducts of the cells metabolism you can get a snapshot of the physiology of a cell or organism that translates to health. One such sensor is being developed as a breath sensor for disease. This could lead to Star Trek like medical sensors.
Similarly, such technology will lead to individual genetic screening for disease risk using chips that interact with the tiny bits of DNA we shed every time we touch something. Companies commercializing this approach also already exist and have products.
Taking a clue from smart dust we will then inject such sensors into our bodies where thy could circulate in the bloodstream or sit in the abdminal cavity silently sensing for disease, infectious agents, or the DNA or signature molecules of a cancer cell. Alternative chips could exist that sit and slowly release drugs when such cell reappear once a patient is diagnosed.

I will be writing more about the details of these concepts and devices being developed in future posts now that I have introducted the concepts. Let me know what you think!

Sperm Made from Female Stem Cells- All Female Baby Possible

Posted on February 4, 2008 by Steven F. Palter, MD

Scientists in the UK have successfully tricked stem cells from a female to develop into sperm. If these cells are functional then the possibility exists for an “all-female” baby to be made from the cells of a same sex female couple. This is the next step forward from a group that earlier did the same thing with cells from a man.

This study was reported in the British Telegraph Newspaper. They listed it as embryonic stem cells from a female human embryo - they are likely wrong - as I read the report it appears to be cells isolated from an adult female human bone marrow.

This same group from Newcastle University led by Prof. Karim Nayernia reported last year that they had made a sperm from the bone marrow of an adult man. I reported on this research in my previous post Babies Without Men and how it opened the possibility of making sperm from a female and creating a female-female baby. The details of the original project, ethical and genetic risks and heated (and sometimes nasty) debate on lesbian-lesbian parenthood are here.

He now reports that he has repeated the experiment and made the sperm from the marrow cells of a female. The work has not yet been published not subjected to peer review.

I previously reported that I think there is a ticking genetic time bomb here due to imprinting errors. The genes that come from your mother and father are in some cases marked as such genetically and one copy may be shut off. In some cases only the gene from mom is active in others only the one from dad. This new process may mess with this system – and imprinting errors are known to cause genetic diseases in some cases. In fact, the telegraph reports of some “problems”

Prof Nayernia showed the potential of the method in 2006, when he used sperm derived from male embryonic stem cells to fertilise mice to produce seven pups, six of which lived to adulthood, though the survivors did suffer problems.

They also report it could be used to make eggs from a gay man’s cells “a gay man to donate skin cells that could be used to make eggs, which could then be fertilised by his partner’s sperm and placed into the uterus of a surrogate mother.”

While they also report he is seeking permission to create a baby in this way, the UK is very restrictive on new reproductive technologies. They have a law- the 1990 Human Fertilisation and Embryology Act- that restricts what can and cannot be done.

Babies Without Men: Creating Sperm From A Woman’s Bone Marrow

Posted on April 13, 2007 by Steven F. Palter, MD

NOTE TO READERS: this post is a copy of the full article and discussion which can be found here- please click for the many many comments

Scientists report today on the ability to create sperm from bone marrow cells. Initially performed in men, the technique could potentially be performed in women and lead to a sperm cell made from a woman’s body. You got it right- that cell could then fertilize an egg leading to the first female-female conception in human history.

As a fertility specialist I couldn’t resist this story and wanted to share the reality and the hype. Prof. Karim Nayernia, Professor of Stem Cell Biology at the Instatute of Human Genetics at the Univeristy of Mewcastle on Tyne led the project reported in Biology of Reproduction. A summary of the study was released in the Independent today.

The researchers said they had already produced early sperm cells from bone-marrow tissue taken from men. They believe the findings show that it may be possible to restore fertility to men who cannot naturally produce their own sperm.

But the results also raise the prospect of being able to take bone-marrow tissue from women and coaxing the stem cells within the female tissue to develop into sperm cells, said Professor Karim Nayernia of the University of Newcastle upon Tyne.

The report suggests that “Scientists are seeking ethical permission to produce synthetic sperm cells from a woman’s bone marrow tissue after showing that it possible to produce rudimentary sperm cells from male bone-marrow tissue.”

The Two Mommy- No Daddy Baby Making Research Plan:

“Theoretically is it possible,” Professor Nayernia said. “The problem is whether the sperm cells are functional or not. I don’t think there is an ethical barrier, so long as it’s safe. We are in the process of applying for ethical approval. We are preparing now to apply to use the existing bone marrow stem cell bank here in Newcastle. We need permission from the patient who supplied the bone marrow, the ethics committee and the hospital itself.”

If sperm cells can be developed from female bone-marrow tissue they will be matured in the laboratory and tested for their ability to penetrate the outer “shell” of a hamster’s egg – a standard fertility test for sperm.

“We want to test the functionality of any male and female sperm that is made by this way,” Professor Nayernia said. But he said there was no intention at this stage to produce female sperm that would be used to fertilise a human egg, a move that would require the approval of the Human Fertilisation and Embryology Authority.

This same group reported last year that they created artifical sperm from embryonic sperm cells in mice.

(They) isolated stem cells from blastocysts, which are early-stage embryos only a few days old. From these cells were extracted those that would go on to form sperm, known as spermatogonial stem cells (SSCs). The SSCs were then cultured in the laboratory, and when some developed into sperm, they were injected into female mouse eggs and grown into early-stage embryos. The embryos were transplanted into the wombs of surrogate mothers.

The Genetic Disaster That Could Result: Faulty Imprinting. There is a huge genetic time-bomb here. The genetic phenomenon called imprinting. This describes the situation where a particular gene is marked or imprinted with a tag that says if it came from the mother or father- and more importantly only one of the other is active. For example for a particular gene it’s possible that only the maternal copy gene could be active and the copy that comes from the mother could be switched off. If this process goes wrong (mom and dad copy mistakes) then severe genetic diseases can result.

A description of imprinting follows and a detailed description is here and here

However, it is now known that the expression of a small number of the 30,000 or so genes in the cells depends on whether the gene copy was passed down from the father or the mother. This process, whereby the expression of a gene copy is altered depending upon whether it was passed to the baby through the egg or the sperm, is called imprinting.

The term “imprinting” refers to the fact that some chromosomes, segments of chromosomes, or some genes, are stamped with a “memory” of the parent from whom it came: in the cells of a child it is possible to tell which chromosome copy came from the mother (maternal chromosome) and which copy was inherited from the father (paternal chromosome). This expression of the gene is called a “parent of origin effect” .

Carnivals Galore: Grand Rounds x 2 and GeneGenie

Posted on April 12, 2007 by Steven F. Palter, MD

I wanted to catch up with the recent carnivals and thank them for including docinthemachine’s posts. First was keagirl a great medblogger who writes at urostream. This grand rounds was straight to the point and a cavalcade of posts. Thanks for including my post on technology: is it god evil or neutral?

Dr Palter from Doc in the Machine (a blog aiming at transforming medicine with tomorrow’s technology) discusses “Evil Tech“, about how some people believe that some technologies are inherently good or evil – especially developments in medicine and the military.

Next came the always fun Dr.Dork (how can you not love someone who blogs about himself in the third person?) – along with some of the funniest grand rounds photos ever.

My post on genetic screening for STD’s added to pap smears was added to the research section

Docinthemachine blogs on new developments in genetic pap smears which could lead us one step closer to eradicating some common STDs.

Last but not least was my first submission to gene genie. I submitted at the request of Bertalan Meskó from Science roll- the master of medical web 2.0 and genetics on the web. He writes gene genie is:

a new blog carnival on genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). But we also accept articles on the news of genomics and genetics.

Gene Genie this week was hosted over at Sandwalk. Thanks to Larry Mogan, a professor of biochemistry at Toronto and also a genetic blogger. He added my post on preimplantation genetic screening for patients with Huntington’s Chorea- and hiding the results from them.

Steven F. Palter posts on a very sensitive topic—whether a patient wants to know if they carry a possibly lethal genetic mutation. For example, what if you are at risk for Huntington’s disease and you simply do not want to know whether you will die in your 40′s or not? That’s fine as long as you don’t have children but do you want to pass the defective gene to your children if you carry it? How can you have children without risk if you don’t want to know whether you are a carrier or not? It turns out there’s a way and Steven Palter explains how in Beyond Genetic & Prenatal Testing- Pre-embryo Testing – Hiding the Results From the Patient.

I enjoyed these three blogs so much aI added them all to my blogroll!

New Genetic Pap Smear Can Easily Diagnose Hidden Sexually Transmitted Diseases

Posted on March 28, 2007 by Steven F. Palter, MD

Undiagnosed sexually transmitted diseases are a major health epidemic in the world. Some of the worst ones have no symptoms. The cervical cancer screening pap smear has been updated with new genetic technology to identify bioth gonorrhea and chlamydia- two of the most serious dangers.

The standard pap smear is a decades old technology where a doctor wipes the cervix (or mouth of the womb inside the vagina) with a brush and sends the cells to a lab. There, they are examined for precancerous or cancerous cells. Pap Smears save lives from cervical cancer. In the last 50 years, it has helped reduce the number of cervical cancer deaths from 35,000 a year to less than 5,000 today.

The first imprevment in the pap smear- thin prep: A major improvement came with the development of liquid based , or thin-prep, technology. Here the cells are collected into a fluid that is processed through proprietary machinery to remove the often overwhelming background debris that can hide the cancerous cells. It is becoming a standard with some estimates of more than 85% of doctors using it.

(The evolution of this technology and the company behind it will be the topic of an upcoming review here at DITM)

What’s New: Hidden Sexually Transmitted Disease (STD) Screening: STD’s are major health crisis. Two of the most common in the USA (chlamydia and gonorrhea) are often asymptomatic in women. Unfortunately, these hidden STDS are major causes of internal scarring and infertility in women. In advanced cases each pelvic infection episode dramatically increases the risk of infertility with almost half of women with three episodes developing tubal infertility. As Gen-probe reports the problem is severe especially in young women and teens:

Each year, close to four million cases of chlamydia and one million cases of gonorrhea occur in the United States. In fact, up to half of patients diagnosed may be infected with both … therefore, it is important to test all sexually active individuals for both… Further, the complications that can result from untreated chlamydia and gonorrhea can be serious. Recent CDC recommendations call for expanded chlamydia testing. It is recommended that all sexually active adolescent women be screened for chlamydia at least once a year. Close to half (46%) of chlamydia cases occur in women ages 15-19 and another one third (33%) of infections occur in females between the ages of 20-24. Young individuals are also at an increased risk for gonorrhea. In fact, seventy-five percent (75%) of all reported cases occur in individuals between the ages of 15 to 29 years.

How does it work?: This test is based on genetic nucleic acid technology. That is, after the cancer screening part is done the sample is tested for the STD infection’s unique DNA. It is close to 98% sensitive in picking up these hidden diseases.

(technical explanation: The APTIMA COMBO 2 Assay is a second generation nucleic acid amplification test that uses target capture for in vitro qualitative detection and differentiation of rRNA from CT and GC. The assay uses a family of Gen-Probe’s proven technologies including target capture (TC), Transcription-Mediated Amplification (TMA) and Dual Kinetic Assay (DKA). This is the same family of technologies used to screen the nation’s blood supply.)

Now that the FDA has cleared this test to be combined with the pap smear it is possible that millions of women could be screening with one test for these hidden dangers.

For extensive information on STD’s from the CDC read here.

An amazing resource for information on the STD epidemic and its devastating effects on fertility are at the American Society for Reproductive Medicine’s Protect Your Fertility Campaign. Here is a white paper on the epidemiology of the infections and the effects on fertility.

Human-Animal Mutant Animal Developed: It’s Not the First!

Posted on March 27, 2007 by Steven F. Palter, MD

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Many reports on-line are coming out about chimeric man-sheep creatures developed.

Scientists have created the world’s first human-sheep chimera – which has the body of a sheep and half-human organs. The sheep have 15 per cent human cells and 85 per cent animal cells – and their evolution brings the prospect of animal organs being transplanted into humans one step closer. Professor Esmail Zanjani, of the University of Nevada, has spent seven years and £5million perfecting the technique, which involves injecting adult human cells into a sheep’s fetus.

What is the promise:

He has already created a sheep liver which has a large proportion of human cells and eventually hopes to precisely match a sheep to a transplant patient, using their own stem cells to create their own flock of sheep.

The process would involve extracting stem cells from the donor’s bone marrow and injecting them into the peritoneum of a sheep’s foetus. When the lamb is born, two months later, it would have a liver, heart, lungs and brain that are partly human and available for transplant.

What many don’t realize is that chimeric, transgenic, and xenograpted human-animal research has been going on for some time. THe genetic research focuses on placing the genes of one species inthe cells of another. Xenograft research has not gotten much press. This is what I was extensively involved in. Here we actually graft human tissue into animals (usually mice) that lack an immune system

My research involved grafting human ovarian tissue into immunodeficient mice and then allowing it to grow, develop, and function. This ia called a xenograft and the technique has now been developed by several groups. The hope was to develop techniques to preserve fertility in cancer patients. There has now been a case reported where human ovarian tissue was frozen, reimplanted (into the woman not a mouse) and resulted in a pregnancy.

The biggest controversies

1. this could potentially lead to a mouse ovulating a human egg that gets fertilized and become a person
2. there is unknown potential for interactive effects between the species
3. there is possibility for new animal viral contamination of the human cells that can be transmitted

When I did xenograft research the animals were locked down as if they has Ebola. Made Alcatraz look like a Holiday Inn.

The top photo is NOT MY RESEARCH —it is a human ear growing on the back of an immunodeficient mouse by a group working on growing human organs for replacement. This is part of the emerging field of tissue engineering where human tissue and even organs are gorwn in lab dishes. Read more on that subject ere: Creating tissues that can augment or replace injured, defective, or diseased body parts.

Yes, it is real…

Beyond Genetic & Prenatal Testing- Pre-embryo Testing – Hiding the Results From the Patient

Posted on March 21, 2007 by Steven F. Palter, MD

Woody Guthrie Died from Huntington’s Chorea

Medviews (host of next weeks grand rounds) has an interesting post about the dilemmas of genetic testing for deadly diseases such as Huntington’s Disease (he has one error- he calls it autosomal recessive but it is actually an autosomal dominant disease). For those unfamiliar see notes from the Huntington’s disease society on testing. The issue is if you get a copy of the disease gene from a parent you will develop the disease – and it is an awful one. There is progressive motor and cognitive degeneration ultimately leading to death.

He writes

There was a wonderful and touching piece in today’s New York Times detailing a young woman’s life as she comes to grips with her family’s history of Huntington’s Chorea (HC), an inherited disorder striking a patient with dementia and muscular discoordination in mid-life.

Ms. Moser, in a poignant and courageous decision, decided to take a genetic test to see whether she would develop the disorder. Unfortunately, the result came back positive, which, because of its recessive genetic nature, meant that both she and her mother would have the disease. Ms. Moser has come to grips with the life-altering nature of the news. She will apparently not have children, and will continue to devote her working life to the care of HC patients.

You see the standard up until now has been that since there is no treatment, diagnosis is a death sentence. Would you choose to know you have it? How would it affect your life? Many at risk have chosen NOT to be tested (it is a 50:50 shot if a parent has it that you would get it).

What many don’t know is that the genetic puzzle is now even more complicated due to PGD- preimplantation genetic testing. In PGD a fertility doc like myself will have the patient undergo IVF. When the embryos are at the 3 day 8-10 cell stage we biopsy them, take a cell, and do a rapid genetic sequencing to look for the target gene- in this case Huntington’s. If that particular embryo is affected we choose not to place it back into the womb and instead choose and unaffected one.

What happens in Huntingtons where the patients often have chosen to not even be tested themselves? I have had these patients. We can do what is called “non-disclosing PGD”. Here, we go through the whole process but the results not shared with the patient (by their choice). We choose the unaffected one to replace and the patient does not know if there even were any embryos that were affected. Either they don’t have the disease (and all embryos are healthy) or they do have it (and we just did not put the affected ones back in).

Personally, I think I would want to know but then again I am not in their shoes. As it has been said- live each day as if it were your last.

More amazing is that this technique of PGD could potentially be used someday to help eradicate single gene disease from the human genome. Do you think it should be used to rid the population of diseases? If so which ones?!

Read more about PGD and controversy surrounding it here